Linked Data
ClinVar Variation Id:
934590
ClinVar RCV Id:
RCV001203007
dbSNP Id:
rs1233525301
gnomAD v2:
22-32871021-C-T
gnomAD v4:
22-32475034-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32475034C>T , CM000684.2:g.32475034C>T | GRCh38 |
| NC_000022.10:g.32871021C>T , CM000684.1:g.32871021C>T | GRCh37 |
| NC_000022.9:g.31201021C>T | NCBI36 |
| NG_016001.1:g.5315C>T | |
| NG_016001.2:g.5315C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.32C>T MANE Select | ENSP00000266087.7:p.Thr11Ile | |
| ENST00000266087.11:c.32C>T | ENSP00000266087.7:p.Thr11Ile | |
| ENST00000420700.5:c.32C>T | ENSP00000406155.1:p.Thr11Ile | |
| ENST00000425028.5:c.32C>T | ENSP00000395823.1:p.Thr11Ile | |
| ENST00000492535.1:n.20C>T | ||
| NM_012179.3:c.32C>T | NP_036311.3:p.Thr11Ile | |
| XM_011530106.1:c.-142C>T | XP_011528408.1:n.-142C>T | |
| XM_024452207.1:c.-159C>T | XP_024307975.1:n.-159C>T | |
| NM_012179.4:c.32C>T MANE Select | NP_036311.3:p.Thr11Ile |